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PubMedDate not supplied

Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point.

We report a case of Pallister-Killian syndrome in a term female infant. Antenatal ultrasound showed left diaphragmatic hernia and polyhydramnios. She was ventilated from birth and the diaphragm defect repaired on day 5. She had dysmorphic features, including median cleft palate, patchy frontotemporal alopecia, hypopigmented skin whorls, and bilateral profound sensorineural hearing loss. Fetal and postnatal karyotypes of peripheral lymphocytes were both normal, 46, XX. Subsequently, a skin fibroblast culture showed mosaic tetrasomy of isochromosome 12p both on G-banding and fluorescence in situ hybridization, consistent with Pallister-Killian syndrome. This case illustrates the importance of using the appropriate sample type for karyotype analysis with implications for prenatal and postnatal diagnosis.

Abnormalities, Multiple↗
PubMed2002

Unilateral multicystic dysplastic kidney: a combined pre- and postnatal assessment.

OBJECTIVE: To review the prenatal assessment of associated renal pathology, non-renal pathology and renal biometry, fetal outcome and postnatal urological management in the presence of unilateral fetal multicystic dysplastic kidney. METHODS: A total of 38 singleton pregnancies with fetal unilateral multicystic dysplastic kidney was studied over a 13-year period. Prenatally, fetal biometry, including head and abdominal circumferences and largest longitudinal diameter of the affected and contralateral kidneys, was performed. The amount of amniotic fluid was assessed. Fetal karyotyping was offered in cases of contralateral renal or non-renal pathology. A MAG 3 scan and voiding cystogram was performed approximately 4 weeks after delivery to establish renal function and to exclude urinary reflux. RESULTS: Unilateral fetal multicystic dysplastic kidney was left-sided in 53% and right-sided in 47% of cases. The fetus was male in 63% and female in 37% of cases. Associated renal and non-renal pathology existed in 21% and 5% of cases, respectively. The fetal karyotype in these subsets was always normal. The longitudinal diameter of the multicystic dysplastic kidney was above the 95th centile in 87%. There was polyhydramnios in three cases and oligohydramnios in two cases. The prematurity rate was 16%. Postnatal examination revealed a non-functional multicystic kidney in 87% (33/38) of cases. Following surgical removal of the affected kidney, these infants progressed normally. Of the remaining five infants, four died because of associated anomalies and one infant developed normally without surgery. CONCLUSIONS: Fetal outcome is determined by associated renal and/or non-renal structural pathology and not by the size/location of the unilateral multicystic dysplastic kidney or amniotic fluid volume.

Amniotic Fluid↗
PubMed2002

Sonographic features of trisomy 18 at midpregnancy.

OBJECTIVE: To evaluate the sonographic characteristics of the fetuses with trisomy 18 at 16-22 weeks of gestation. METHODS: The subjects were recruited from pregnant women undergoing prenatal sonographic examinations at 16-22 weeks of gestation and subsequently proven to be trisomy 18. The results of ultrasound findings were retrospectively reviewed in 25 cases with chromosomes which were confirmed as trisomy 18. RESULTS: All cases had at least one abnormal sonographic finding. There was only one case that had no structural abnormality, but fetal growth restriction was documented. The common sonographic findings included fetal growth restriction, choroid plexus cysts, cardiac anomalies, clenched hand, omphalocele and cleft lip. Fetal growth restriction was the most common finding demonstrated in nearly half of all cases. Other less common findings were diaphragmatic hernia, abnormal head shape, polyhydramnios, single umbilical artery. CONCLUSION: Nearly all fetuses with trisomy 18 had characteristic sonographic patterns of abnormalities demonstrated at midpregnancy. Detailed ultrasound at midpregnancy could effectively screen fetuses with trisomy 18 for further genetic testing.

Chromosomes, Human, Pair 18↗
PubMed2003

In utero diagnosis of an aneurysm of the vein of Galen causing hydrocephalus and heart failure.

A prenatally diagnosed aneurysm of the vein of Galen was presented in the fetus of a patient referred to our hospital at 31 weeks of gestation. Ultrasonography demonstrated polyhydramnios, cardiomegaly, dilatation of the right atrium and superior vena cava, tricuspid valve regurgitation, hydrocephalus, and a large hypoechoic mass with blood flow in the suboccipital region. Skin edema was shown thereafter. A 3262-g male was delivered by cesarean at 35 weeks of gestation. Computed tomography imaging demonstrated a large mass in the suboccipital region, after which thrombocytopenia appeared and the neonate died at 18 days of age.

Adult↗
PubMed1991

Doppler studies of the uteroplacental circulation in pregnancies complicated by diabetes.

The aim of this study was to evaluate the uteroplacental side of the circulation in pregnancies complicated by diabetes. A total of 54 women with pregnancies complicated by diabetes underwent uterine and umbilical artery Doppler studies. Uterine Doppler velocity waveforms were not obtained in two women. The prevalence of abnormal uterine artery velocity waveforms was much higher than in a non-diabetic population (15.4% vs. 2%, p < 0.001). Those eight women with abnormal uterine Doppler studies had a statistically higher incidence of poor glycemic control, chronic hypertension, polyhydramnios, vasculopathy, pre-eclampsia, Cesarean births for fetal distress and newborns with respiratory distress syndrome. In this group of patients, the umbilical circulation was not considered to be a contributing factor in the development of problems.

Journal Article↗
PubMed1992

The natural history of oligohydramnios/polyhydramnios sequence in monochorionic diamniotic twins.

Twelve patients with monochorionic diamniotic twin pregnancies complicated by oligohydramnios/polyhydramnios sequence were evaluated to determine the natural history of this syndrome. Nine patients elected to continue their pregnancies and three underwent elective termination. Six of the nine continuing pregnancies delivered viable fetuses. Four of the nine continuing pregnancies had evidence of a 'stuck' twin at less than 20 weeks' gestation, and only one yielded live newborns (25%). Three patients diagnosed with a mild case of oligohydramnios/polyhydramnios sequence underwent worsening of the syndrome with a 'stuck' twin seen only after 26 weeks: all neonates survived. Five pregnancies initially diagnosed as having a 'stuck' twin showed improvement in amniotic fluid volume, with one actually reversing, so that the previously 'stuck' twin developed polyhydramnios and the co-twin became 'stuck'. In summary, among the nine non-aborted pregnancies managed conservatively, 12 of 18 fetuses (67%) survived. When the diagnosis of 'stuck' twin was made at <or= 20 weeks, only two of eight (25%) lived. These observations suggest that the oligohydramnios/polyhydramnios sequence is a dynamic process with wide and often unpredictable fluctuations in amniotic fluid volume.

Journal Article↗
PubMed1993

Intraobserver reliability of amniotic fluid volume estimation by two techniques: amniotic fluid index vs. maximum vertical pocket.

We evaluated the intraobserver agreement of two techniques of amniotic fluid assessment: amniotic fluid index and maximum vertical pocket. The intraobserver variation of the two forms of amniotic fluid assessment was obtained by evaluating amniotic fluid prior to fetal biometry (post-biometry value) and after fetal biometry (pre-biometry value). Between January and June 1990, this amniotic fluid assessment was by the maximum vertical pocket technique, and between July and December 1990, by the amniotic fluid index technique. In the Grace Maternity Hospital, Vancouver, 352 subjects were evaluated by the maximum vertical pocket technique, and 184 subjects by the amniotic fluid index technique.Amniotic fluid volumes were categorized into normal, oligohydramnios, and polyhydramnios, and the pre-biometry and post-biometry categories of amniotic fluid index and maximum vertical pocket techniques were compared by kappa statistics. The maximum vertical pocket technique showed poor intraobserver agreement (kappa = 0.33), but the amniotic fluid index technique showed good agreement (kappa = 0.72). With the poor reproducibility of the maximum vertical pocket technique in assessing extremes of amniotic fluid volume, it is difficult to support its use as a component of fetal assessment.

Journal Article↗
PubMed1994

Epignathus: clinical and sonographic observations of two cases.

The epignathus or mature pluritissued teratoma of the mid-line of the palate is a benign tumor for which the neonatal prognosis is related to the obstruction of the superior airway. This paper concerns observations of two cases, which developed in different ways. Echography enables diagnosis of this type of malformation which classically combines a heterogeneous polylobed mass, polyhydramnios and the absence of other morphological anomalies. It enables an accurate differential diagnosis to be made by eliminating the other masses of the cephalic region. Echographic diagnosis also allows a rational management decision to be made, i. e. termination of pregnancy if prognosis is poor, or continuation with multidisciplinary (neonatologist, obstetrician, surgeon) intervention at birth.

Journal Article↗
PubMed1994

Antenatal diagnosis and treatment of fetal hydrops secondary to pulmonary extralobar sequestration.

Bronchopulmonary sequestration with associated non-immune hydrops has been previously reported with generally poor prognosis for the neonate. The vast majority of sequestrations are discovered postnatally, and less than half are correctly identified as sequestration before birth.Until recently, treatment for pulmonary sequestration was limited to postnatal respiratory support and resection of the sequestered lung. But aggressive respiratory support does not succeed in salvaging infants with underlying pulmonary hypoplasia. In our report, we describe the antenatal treatment of pleural effusions complicated by hydrops fetalis secondary to a bronchopulmonary sequestration, successfully managed with a transthoracic catheter placement. This therapy resulted in the resolution of pleural effusion, polyhydramnios and hydrops, with a good fetal outcome.

Journal Article↗
PubMed1995

Doppler studies of the fetal circulation in twin-twin transfusion syndrome.

This cross-sectional study investigated the circulatory profile of the donor and recipient fetuses in 20 pregnancies with twin-twin transfusion syndrome presenting with acute polyhydramnios at 17-27 (mean, 22) weeks' gestation. Doppler investigations of the arterial vessels and ductus venosus, inferior vena cava, right hepatic vein, tricuspid and mitral ventricular inflow were performed in both fetuses. Mean values of most blood flow velocities on the venous side showed a significant decrease in both groups of fetuses, and a significant increase in mean values for indices describing waveform pulsatility was found in all three venous vessels in the group of recipients, whereas in the donor group this was only the case in the ductus venosus. Mean values of atrioventricular flow velocities showed a significant decrease in the donor group. The most significant findings on the arterial side were an increased mean umbilical artery pulsatility index and a decreased mean value for aortic blood flow velocity in both groups of fetuses. Five recipients and four donors had absence or reversal of blood flow during atrial contraction in the ductus venosus. All these fetuses showed pulsations in the umbilical vein. Tricuspid regurgitation was present in eight recipients. Absence or reversal of end-diastolic velocities in the umbilical artery was found in four donors.(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Flow Velocity↗
PubMed1995

Changes of venous blood flow velocity waveforms in fetuses with supraventricular tachycardia.

Studies in the fetal lamb have shown that atrial pacing beyond a rate of 300-320 beats/min may be associated with dramatic changes of venous blood velocity waveforms, an increase of venous pressure by up to 75%, hydrops, polyhydramnios and placental edema. The aim of our study was to determine the 'critical' heart rate frequency in the human fetus. In 11 fetuses (five with and six without hydrops) with supraventricular tachycardia, pulsed wave Doppler analysis of flow velocity waveforms of the inferior vena cava, the ductus venosus and the left hepatic vein were performed before and after drug treatment. In ten cases cardioversion was achieved by in utero antiarrhythmic drug therapy; in one case treated with digoxin and flecainide the supraventricular tachycardia was decreased to 160-190 beats/min with disappearance of hydrops. Before intrauterine treatment of supraventricular tachycardia, pulsatile reversal of blood flow in the inferior vena cava, ductus venosus and left hepatic vein was visible, with monophasic forward flow during systole and reversed flow during diastole in ten of 11 fetuses. One fetus with supraventricular tachycardia of 195 beats/min showed a normal biphasic forward flow pattern. During drug-induced sinus rhythm, a normal biphasic forward venous blood flow pattern was shown in all ten cases. In five cases pulsatile reversal was demonstrated during a drug-induced reduction of the heart rate from 280 to 210 beats/min and a normal biphasic forward flow velocity waveform appeared during supraventricular tachycardia below 210 beats/min.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1995

Spontaneous regression of fetal pulmonary sequestration.

The prenatal diagnosis of pulmonary sequestration can usually be made by the third trimester of pregnancy, from the combination of an intrathoracic mass and indirect signs such as cardiac deviation, fetal hydrops, pleural effusion and polyhydramnios. We describe four cases in which pulmonary hyperechogenicity was detected before 26 weeks' gestation. In three cases the hyperechogenic mass was isolated. In all cases it had mostly regressed during the pregnancy. A review of the cases of isolated pulmonary sequestration that have been diagnosed during the antenatal period is presented. Antenatal evolution was found to be unpredictable regardless of the type or severity of the case at the first diagnosis. We propose a classification to define more clearly the optimal management of pulmonary sequestration.

Adult↗
PubMed1995

Uterine flow velocity waveform shape as an indicator of maternal and placental development failure mechanisms: a model-based synthesizing approach.

High pulsatility indices (PIs) and/or notches on the Doppler flow velocity waveforms of the uterine artery have been interpreted as indications of high placental flow impedance, and are known to be associated with poor fetal outcome. A software model of the uteroplacental blood path and its use to investigate possible interactions within the uteroplacental unit in more detail are described. Increasing transcotyledonary resistance to represent intervillous obstruction raised the cotyledonary core pressure and spiral artery PI. Increased spiral artery flow resistance, representing failed spiral artery invasion, reduced the cotyledonary core pressure and reduced the spiral artery PI. In vivo, such changes in cotyledonary core pressure would modify the transplacental water balance, promoting oligohydramnios for spiral artery invasion failure and polyhydramnios for villous obstruction. Both mechanisms increased the uterine and arcuate PI, but failed to produce a notch. It was found that notch formation depended on terms representing increased compliance (distensibility) of the uterine and/or arcuate artery walls, which have no direct effect on uteroplacental mean flow. The same mechanism steepened and increased uterine artery peak systolic flow, contributing to increased PI. The notch phenomenon seems to be an indicator of abnormal maternal artery wall status, independent of placental obstructive mechanisms, which can mask obstructive PI changes. Computer analysis of the frequency index profile should allow separation.

Computer Simulation↗
PubMed1995

Prenatal diagnosis of gastroesophageal reflux by color and pulsed Doppler ultrasonography in a case of congenital pyloric atresia.

A case of pyloric atresia diagnosed in the third trimester is described. Real-time ultrasonographic examination revealed polyhydramnios, enlarged stomach, evident gastric peristalsis and esophageal dilatation. Color and pulsed Doppler studies of the gastroesophageal junction revealed the presence of a biphasic flow pattern that was consistent with gastroesophageal reflux.

Adult↗
PubMed1996

Esophageal and duodenal atresia in a fetus with Down's syndrome: prenatal sonographic features.

Ultrasound examination of a 22-week fetus demonstrated a grossly distended stomach and proximal duodenum, with a large cystic area in the chest. There was associated polyhydramnios. A presumptive diagnosis of duodenal atresia with a congenital diaphragmatic hernia was made. Analysis of a fetal blood sample showed that the fetus had Down's syndrome. Histological examination after termination of the pregnancy revealed the unusual combination of duodenal and esophageal atresia, with an intact diaphragm.

Adult↗
PubMed1996

In utero percutaneous umbilical cord ligation in the management of complicated monochorionic multiple gestations.

The study was designed to report our experience with in utero percutaneous umbilical cord ligation for selective feticide in pre-viable, abnormal, monochorionic multiple gestations. The selection criteria prior to offering percutaneous umbilical cord ligation included normal anatomy in the other fetus(es), normal karyotype and polyhydramnios, or uterine contractions. The procedure was performed under combined endoscopic and sonographic guidance. Fifteen patients were referred for evaluation and possible treatment. Two patients were excluded because of misdiagnosis. The mean gestational age at the time of the procedure was 21 weeks (range 16-25 weeks). There were ten acardiac twins, one discordant twin with acrania, and two cases of twin-twin transfusion syndrome with a hydropic twin. Percutaneous umbilical cord ligation was accomplished in 11/13 (84%) cases. An average of 8.5 weeks (range 0-18.5 weeks) was gained after percutaneous umbilical cord ligation, and five of 11 patients delivered at or after 30 weeks. Seven of 11 patients undergoing ligation procedures had living children. Premature rupture of membranes occurred within 3 weeks in 4/13 (30%) of cases. In utero fetal demise remote from the procedure occurred in three ligated patients undergoing ligation, in two of which intraoperative bleeding occurred. One fetus with cystic fibrosis died in the newborn period. Percutaneous umbilical cord ligation is an evolving alternative technique for the management of abnormal monochorionic multiple gestations. The advantages of percutaneous umbilical cord ligation over other approaches include complete extravascular interruption of the blood flow in all vessels of the cord. This may prevent postmortem feto-fetal hemorrhage or possible embolic phenomena that may result in death of the normal twin, as seen with intravascular techniques. Percutaneous umbilical cord ligation prior to spontaneous death of a co-twin may also avert the neurological and other complications that may occur in the surviving twin. Technological advances should decrease the observed complications and improve the success rate of the procedure.

Diseases in Twins↗
PubMed1996

Sonographic diagnosis of fetal upper extremity dysmorphology: significance and outcome.

The aim of this study was to determine the etiology, associated anomalies and outcome of fetuses with postural deformities and contractures of the upper extremities detected sonographically. Fifty-four fetuses with sonographically detected postural anomalies of the upper extremities were identified from our database. Sonographic findings and associated anomalies were tabulated on the basis of the original sonogram. Perinatal follow-up and/or karyotype were available in 52 cases from a review of the maternal and newborn medical records and pathology reports. Of the 52 fetuses with sonographically detected anomalies of the upper extremities, 44 (85%) were non-survivors and eight (15%) were survivors. Forty-three fetuses had associated sonographic abnormalities. Karyotyping performed in 44 cases revealed 26 cases (59%) of aneuploidy, with trisomy 18 accounting for 23/26 (88%). In the setting of a normal karyotype, a variety of genetic disorders were found, including syndromes involving the fetal dyskinesia/akinesia sequence. Disturbances in amniotic fluid occurred in 48% of the cases (24 fetuses with polyhydramnios and one with oligohydramnios). In conclusion, the sonographic detection of postural abnormalities of the upper extremities carries a guarded prognosis, with survival in 15% of fetuses and a high incidence of chromosomal defects.

Chromosome Aberrations↗
PubMed1998

Examination of a low-cost pocket Doppler device for fetal assessment.

The objective of this study was to evaluate a pocket Doppler device (Multi Dopplex II) for the waveform analysis of umbilical artery systolic/diastolic (S/D) ratios and resistance index (RI). A prospective, paired study was undertaken in a perinatal ultrasound unit in a tertiary referral hospital. Forty-three high-risk pregnant women beyond 16 weeks' gestation had fetal umbilical artery flow velocity waveforms recorded with both Multi Dopplex II and duplex Doppler devices and the waveform analyses were calculated. The Multi Dopplex II falsely indicated absent diastolic flow in two cases and failed to produce a flow velocity waveform in the presence of maternal obesity, polyhydramnios and some cases of anterior placenta (n = 8). As well as this, the limits of agreement overall for both S/D ratio and RI were wide (for S/D ratio, -1.6 to 2.2 and for RI, -0.20 to 0.20). Even though the levels of agreement were better for the third trimester (for S/D ratio, -0.8 to 1.1 and for RI, -0.10 to 0.20), we concluded that the limits of agreement were too wide for clinical use.

Blood Flow Velocity↗